Six billion nucleotides daily

Emory geneticists have a new tool in their laboratory: a next-generation sequencing system that enables them to analyze multiple genes at the same time.

The new technology, the Applied Biosystems SOLiD system, makes it easier to analyze disorders in which many possible genes are implicated. Identification of genetic mutations is important for diagnosis confirmation, genetic counseling, risk assessment, and carrier screening.

The current gold standard for genetics sequencing technology allows geneticists to sequence approximately 800 megabases per day. A megabase measures the length of DNA fragments and is equal to 1 million nucleotides (segments of DNA that are made up of the chemical bases A,C,T, and G). By comparison, the new technology will generate more than 6,000 megabases per day. The instrument also uses two-base encoding, sequencing each base twice to provide greater accuracy and confidence in detecting mutations.

“This new sequencing capability will help lower the barrier to genetic testing for complex disorders and will be an important step in ending the diagnostic odyssey that families now face,” says Emory geneticist Madhuri Hegde.

The use of next-generation sequencing technology will allow Emory’s Department of Human Genetics to offer panel testing, at a reasonable cost, for conditions such as X-linked intellectual disability, a disorder that involves many genes. “The more of these genes we can analyze, the better our chances of finding what is causing the disorder,” says Hegde.